March 17, 2022 — Illnesses that have an effect on the nervous system will be a number of the most tough circumstances for medical doctors to diagnose.
Many circumstances may cause comparable signs, however two folks with the identical situation may have completely different signs, which might make the reason for the signs laborious to pinpoint. Delays in diagnosing the situation imply that folks go longer with out the remedy they want.
However now, a new DNA take a look at is fixing that drawback for greater than 50 genetic illnesses that have an effect on the nervous system.
The brand new take a look at covers Huntington’s illness, Lou Gehrig’s illness, fragile X syndrome, epilepsy, and numerous different neurological illnesses which might be handed on genetically from mother and father to kids.
These illnesses are collectively often called short-tandem repeat enlargement issues, which signifies that very lengthy DNA sequences that repeat time and again in an individual’s genes are inflicting issues.
The brand new take a look at makes use of a method known as nanopore sequencing, which scans a affected person’s DNA in search of 37 genes identified to be concerned with short-tandem repeat enlargement issues. When the take a look at spots the genes, it checks whether or not they’re a part of these lengthy, repetitive sequences and what these sequences are. This identifies what situation the particular person has.
Although none of those circumstances has a treatment, early analysis helps sufferers put together for future signs and helps medical doctors handle problems.
Earlier than this take a look at, medical doctors and sufferers needed to depend on much less correct exams.
The brand new method prices lower than $750 and makes use of know-how concerning the measurement of a stapler. It will probably additionally establish new repetitive sequences, which may result in discovering circumstances we don’t but learn about.